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Human Mutation|October 4, 2026
Integrated Approach to Diagnosing Limb-Girdle Muscular Dystrophies in Resource-Limited SettingsHammad Yousaf, Lubaba Bintee Khalid, Affan Ahmed, et al.Human Mutation|October 6, 2026
Functional Characterization and Genotype-Phenotype Correlation of Androgen Receptor Variants in Patients With Androgen Insensitivity SyndromeDi Mao, Lijun Fan, Yueni Zhang, et al.Human Mutation|May 23, 2025
Single-Cell RNA-Seq Recognized Key Genes for Metastasis and Macrophage Infiltration in Colorectal CancerJuan Shi, Peiming Zheng, Libo Ouyang, et al.Human Mutation|October 7, 2026
A Regulator SNP Affecting the Transcription Factor SP1 Binding Site in the PIK3R3 Gene Contributes to Noise-Induced Hearing Loss RiskLong Miao, Jiaxuan Zhou, Man Qu, et al.Human Mutation|October 28, 2026
Dynamics of IDH1 Mutation and Protein Expression Between Primary and Recurrent Gliomas and Their Prognostic SignificanceWei Yu, Siyu Guo, Beibei Liu, et al.Human Mutation|November 8, 2026
Malignant Giant Cell Tumor of Bone: A Clinicopathological Analysis of 15 CasesLi Jiang, Jinmin Li, Yue Fan, et al.Human Mutation|July 5, 2022
WARS1 and SARS1: Two tRNA synthetases implicated in autosomal recessive microcephalyNina Bögershausen, Hannah E Krawczyk, Rami A Jamra, et al.Human Mutation|October 15, 2020
SMN1 copy-number and sequence variant analysis from next-generation sequencing dataDaniel Lopez-Lopez, Carlos Loucera, Rosario Carmona, et al.Human Mutation|March 29, 2020
Disease-causing missense mutations within the N-terminal transmembrane domain of GlcNAc-1-phosphotransferase impair endoplasmic reticulum translocation or Golgi retentionWang-Sik Lee, Benjamin C Jennings, Balraj Doray, et al.Human Mutation|September 16, 2020
Novel F8 and F9 gene variants from the PedNet hemophilia registry classified according to ACMG/AMP guidelinesNadine G Andersson, Veerle Labarque, Anna Letelier, et al.Pageof 583